Kevin Gardner, M.D., Ph.D., Senior Investigator and Head,
Transcription Regulation Section, Center for Cancer Research, NCI, NIH, DHHS
New findings linking epigenetic regulation to cellular
processes that drive important hallmarks of cancer will be discussed. The
broader impact of these findings on defining molecular and genomic mechanisms
that uncover important connections between race, obesity and breast cancer will
be reviewed.

3:00 ヒトがんの身体的レトロ転位の展望

Peter J. Park, Ph.D., Associate Professor, Center for
Biomedical Informatics, Harvard Medical School; Informatics Program, Children’s
Hospital BostonTransposable elements (TEs) comprise close to half of the
human genome, and some TE families are still able to copy and insert their
sequences into other genomic loci through an RNA-mediated mechanism. We will
describe our analysis of somatic retrotransposition events in cancer and their
potential role in tumorigenesis, using a computational method called Tea
(Transposable Element Analyzer) we developed for detecting TE integration sites
at single-nucleotide resolution from paired-end whole-genome sequencing data.
We have identified nearly 200 high-confidence somatic TE insertions in the
cancer genomes of 43 patients across multiple tumor types, and our integrative
analyses with other data types have indicated their potential impact in
tumorigenesis. We will give an update on our efforts at characterizing TE
activities in a more comprehensive panel of tumor types.

3:45 午後の休憩時間

4:00 遺伝子調節と一般的な疾病

John Stamatoyannopoulos, M.D. Associate Professor, Genome
Sciences and Medicine, School of Medicine, University of Washington

5:00 基調講演者によるパネルディスカッション

Moderator: Kevin A. Davies, Ph.D., Editor-in-Chief, Bio-IT
World

Thanks to the explosive power of NGS and extraordinary
collaborative projects such as ENCODE and TCGA, researchers are gaining
important new insights regarding genome function and architecture, including
the role of non-coding RNAs and epigenetic modifications in health and disease.
In this plenary panel discussion, our opening speakers will discuss the
implications of current research and future directions and priorities.

NIST has recently convened the Genome in a Bottle Consortium to develop the reference
materials, reference methods, and reference data needed to support confidence
in human whole genome variant calls. The work of this consortium will enable
translation of sequencing to clinical applications through a community
standards development effort.

The consortium
will host a morning session to present its work plan, progress at NIST in
developing whole-genome reference materials, and updates from each of four
working groups: (1) Reference Material (RM) Selection and Design; (2)
Measurements for Reference Material Characterization; (3) Bioinformatics, Data
Integration and Data Representation; (4) Performance Metrics and Figures of
Merit.

An open
discussion with the working group chairs and consortium hosts from NIST will
follow the presentations.

NGS for Drugs, Patients and Clinical Trials

March 22-23
Designed for drug developers to explore the unparalleled advantages of NGS technologies for translational research, while addressing common challenges.
Learn more at healthtech.com/ngs-drug-development

メディアギャラリー

Applying NGS and Data Analysis

Hear first-hand what thought leaders are saying about the use of NGS over the past two years, as well as their perspective on where NGS will take us in the future.

Sequencing 101In less than five years next-generation sequencing has gone from radical to routine. Naturally, in a field moving so fast, newbies can feel overwhelmed. Sequencing 101 is designed to provide definitions in terminology, types of platforms, workflow strategies, and current applications, to what's next? Learn about the genomic data revolution from data generation to management to analysis and interpretation.

A team led by Liz Worthey and Howard Jacob recently published a landmark case report in which genome sequencing of an individual patient, Nicholas Volker, produced a specific diagnosis and a meaningful therapy. Since October 2010, their team at the Medical College of Wisconsin has established a comprehensive review system to end the diagnostic odysseys of other young patients.

In this exclusive podcast, recorded at the Copenhagenomics conference in June 2011, Liz Worthey discusses with Bio-IT World editor Kevin Davies the highs and lows of the Volker case, the challenges of genome data analysis, and how that experience has provided the foundation for ongoing clinical genome sequencing efforts.